Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome.
Perspective on Diamond-Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome.
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戴蒙德-布莱克范贫血的观点：罕见先天性骨髓衰竭综合征的教训。
作者：
Sakamoto,KM;Narla,A
先天性和遗传性骨髓衰竭综合征是罕见的，并不完全是对公共健康的危害。然而，他们有重要的课程要教授，特别是血液学和一般的细胞生物学。首先，通过对儿童罕见疾病的研究，可以在科学知识和对发病机制的理解方面取得重大进展。其次，对罕见综合征的研究提供了在细胞和全球层面上对正常生理的洞察。最后，就像del(5q)骨髓增生异常综合征(RPS14被发现发生突变)的情况一样，研究钻石-布莱克凡贫血(DBA)等罕见疾病的发现对我们理解儿童和成人的其他先天性、遗传性和获得性疾病具有重要意义。从这个角度，我们简要回顾了过去二十年来DBA研究的进展和里程碑。1DBA最初由休·约瑟夫斯于1936年描述，但最终以路易斯·戴蒙德和肯尼斯·布莱克凡的名字命名，他们在1938年描述了再生障碍性贫血综合征。最初，DBA被认为是一种免疫介导的疾病，导致了皮质类固醇治疗，后者已成为护理的标准。然而，50年后，皮质类固醇如何确切地改善DBA儿童的红细胞生成仍不清楚。自20世纪80年代以来，大多数DBA患者(>；75%)注意到eADA升高。3-5为什么腺苷脱氨酶应该升高，以及它在DBA中可能起什么作用仍不确定。1997年，一名患有DBA的6岁、7岁儿童在19号染色体上发现了突变，1999年被确定在
Congenital and inherited bone marrow failure syndromes are rare and not exactly public health hazards. However, they have important lessons to teach about hematology in particular and cell biology in general. First, significant advances in scientific knowledge and understanding of pathogenesis can be obtained from studying rare diseases in children. Second, studies on rare syndromes provide insights into the normal physiology at both the cellular and global levels. Finally, as in the case of del (5q) myelodysplastic syndrome (where RPS14 was found to be mutated), discoveries from studying rare diseases such as Diamond–Blackfan anemia (DBA) can have important implications for our understanding of other congenital, inherited and acquired diseases in children and adults. In this perspective we briefly review progress and milestones in DBA research over the past two decades. 1DBA was first described in 1936 by Hugh Josephs but was ultimately named after Louis Diamond and Kenneth Blackfan who described the hypoplastic anemia syndrome in 1938. 2 Initially, DBA was thought to be an immune-mediated disease that led to corticosteroid therapy that has become the standard of care. However, after 50 years, it is still unclear how precisely corticosteroids improve erythropoiesis in children with DBA. An elevated eADA has been noted since the 1980s in the majority (> 75%) of patients with DBA. 3–5 Why adenosine deaminase should be elevated and what role it might have in DBA again remains uncertain. In 1997, a mutation was noted on chromosome 19 in a child with DBA, 6, 7 and in 1999 was determined to be within the